30,000,000 people living in the United States today have a rare disease and more than half of these are children.* Pediatric mortality data shows that 23% of infant deaths are due to genetically determined disorders** and 34% of all pediatric admissions are due to an underlying undiagnosed genetic disease accounting for 50% of hospital charges.***
Health care is not currently structured to diagnose, treat nor manage rare disease. This misalignment creates enormous burden on the patient and care system. Traditional protocols for diagnosis and treatment are expensive and potentially inconclusive resulting in a diagnostic odyssey that can span years. In addition, there is no current standard for data sharing to allow for knowledge-base growth which will benefit both patients and physicians.
New tools, solutions and care models are required across the entire care delivery spectrum to drive the adoption of genomic medicine and improve patient care. From patient intake (evaluation, genetic counseling, assessment for whole genome sequencing suitability) to patient consent, education and sample collection to accessing/providing next-generation sequencing, data analysis and interpretation services to results return and treatment planning, Envision Genomics has the end-to-end solution for practicing genomic medicine today.
*Source: NORD (National Organization for Rare Disease) http://rarediseaseday.us
** Hoyert DL, Freedman MA, Strobino DM, Guyer B (2001) Annual summary of vital statistics: 2000. Pediatrics 108:1241– 1255
*** Shawn E. McCandless,1,2 Jeanne W. Brunger,3 and Suzanne B. Cassidy (2004) The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital, Am. J. Hum. Genet. 74:121–127.